Congenital myasthenic syndrome with novel pathogenic variants in the COLQ gene associated with the presence of antibodies to acetylcholine receptors

Author:

Tay Chee Geap,Fong Choong Yi,Li Limin,Ganesan Vigneswari,Teh Chee Ming,Gan Chin Seng,Thong Meow-Keong

Funder

Universiti Malaya

Publisher

Elsevier BV

Subject

Physiology (medical),Clinical Neurology,Neurology,General Medicine,Surgery

Reference25 articles.

1. Congenital myasthenic syndromes: a clinical and treatment approach;Farmakidis;Curr Treat Options Neurol,2018

2. Abicht A, Muller JS, Lochmuller H. Congenital Myasthenic Syndromes. In: GeneReviews. Edited by: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K et al. Seattle (WA): University of Washington, Seattle.; 1993-2018.

3. Pathogenesis of myasthenia gravis: update on disease types, models, and mechanisms. F1000Research;Phillips;Faculty Rev-513.,2016

4. False positive anti acetylcholine receptor antibodies in motorneurone disease;Abbott;Lancet,1986

5. Mitochondrial ophthalmoplegia with fatigable weakness and elevated acetylcholine receptor antibody;Behbehani;J Neuroophthalmol,2007

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